Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
7.8
5.6
Journals
IJMS
Special Issues
Estrogen Receptors and Metabolism in Human Diseases
ijms-logo
Submit to IJMS Review for IJMS Propose a Special Issue

Journal Menu

► Journal Menu

Journal Browser

► Journal Browser
share announcement

Estrogen Receptors and Metabolism in Human Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Endocrinology and Metabolism".

Deadline for manuscript submissions: closed (30 September 2023) | Viewed by 8169

Special Issue Editor

Dr. Giuseppe Carruba

E-Mail Website
Guest Editor
Unit of Research & Internationalization (SIRS), ARNAS-Civico, Palermo, Italy
Interests: cancer biology; hormones & cancer; stem cells; nutrition & cancer; primary prevention; cell-to-cell communication; sex steroid metabolism; estrogens & chronic diseases; nuclear receptors; signal transduction
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Estrogens compose a superfamily of pleiotropic regulators of development, structure, function and homeostatic control of a large array of human tissues, organs and systems.

The estrogen superfamily consists of parent (circulating) hormones, specifically estradiol, estrone and estriol and their metabolic derivatives that are produced through the activity of metabolizing enzymes in target tissues. The ultimate estrogen activity in peripheral tissues represents the result of expression, localization and activity of key enzymes, including 17bhydroxysteroid-dehydrogenases, 2-, 4- and 16-hydroxylases, catechol-O-methyltransferases and sulpho- and glucuronyl-transferases. These enzymes may give rise to bioactive or inert metabolites featuring either beneficial or harmful effects.

Estrogens act through complex and many-sided interactions that include either genomic or nongenomic, estrogen receptor (ER)-mediated or ER-independent mechanisms. Recent advances in the field have also revealed that estrogens may act through G-protein-coupled estrogen receptors (GPER), a seven-transmembrane receptor that activates nongenomic MAPK/ERK pathways upon estrogen binding. Furthermore, there is significant evidence that the expression of ER splicing variants may play a role in the development and/or clinical course of various human diseases.

Although estrogens act as physiological regulators, their excess, deficiency and/or alteration of signaling machinery may eventually lead to developing a variety of human diseases. In this framework, integrated knowledge of estrogen signaling and metabolism appears to be essential not only to develop a deeper understanding of estrogen-related mechanisms underlying pathogenesis of relevant diseases, but also to provide an important experimental basis for developing innovative strategies and measures for disease prevention, early diagnosis, prognostic indication and targeted therapies.

Dr. Giuseppe Carruba
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • estrogen receptors (ER)
  • estrogen metabolism
  • wild-type and variant ER
  • estrogen enzymes and derivatives
  • human diseases

Published Papers (3 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Review

18 pages, 3081 KiB  
Article
Molecular Landscape of Pelvic Organ Prolapse Provides Insights into Disease Etiology
by Kirsten B. Kluivers, Sabrina L. Lince, Alejandra M. Ruiz-Zapata, Wilke M. Post, Rufus Cartwright, Manon H. Kerkhof, Joanna Widomska, Ward De Witte, Jakub Pecanka, Lambertus A. Kiemeney, Sita H. Vermeulen, Jelle J. Goeman, Kristina Allen-Brady, Egbert Oosterwijk and Geert Poelmans
Int. J. Mol. Sci. 2023, 24(7), 6087; https://doi.org/10.3390/ijms24076087 - 23 Mar 2023
Cited by 5 | Viewed by 1813
Abstract
Pelvic organ prolapse (POP) represents a major health care burden in women, but its underlying pathophysiological mechanisms have not been elucidated. We first used a case-control design to perform an exome chip study in 526 women with POP and 960 control women to [...] Read more.
Pelvic organ prolapse (POP) represents a major health care burden in women, but its underlying pathophysiological mechanisms have not been elucidated. We first used a case-control design to perform an exome chip study in 526 women with POP and 960 control women to identify single nucleotide variants (SNVs) associated with the disease. We then integrated the functional interactions between the POP candidate proteins derived from the exome chip study and other POP candidate molecules into a molecular landscape. We found significant associations between POP and SNVs in 54 genes. The proteins encoded by 26 of these genes fit into the molecular landscape, together with 43 other POP candidate molecules. The POP landscape is located in and around epithelial cells and fibroblasts of the urogenital tract and harbors four interacting biological processes—epithelial-mesenchymal transition, immune response, modulation of the extracellular matrix, and fibroblast function—that are regulated by sex hormones and TGFB1. Our findings were corroborated by enrichment analyses of differential gene expression data from an independent POP cohort. Lastly, based on the landscape and using vaginal fibroblasts from women with POP, we predicted and showed that metformin alters gene expression in these fibroblasts in a beneficial direction. In conclusion, our integrated molecular landscape of POP provides insights into the biological processes underlying the disease and clues towards novel treatments. Full article
(This article belongs to the Special Issue Estrogen Receptors and Metabolism in Human Diseases)
►▼ Show Figures

Figure 1

12 pages, 1731 KiB  
Article
Estrogen Receptor-β Gene Cytosine-Adenine (ESR2-CA) Repeat Polymorphism in Postmenopausal Colon Cancer
by Naoko Honma, Tomio Arai, Yoko Matsuda, Yosuke Fukunaga, Masaaki Muramatsu, Shinobu Ikeda, Yuri Akishima-Fukasawa, Noriko Yamamoto, Hiroshi Kawachi, Yuichi Ishikawa, Kengo Takeuchi and Tetuo Mikami
Int. J. Mol. Sci. 2023, 24(5), 4502; https://doi.org/10.3390/ijms24054502 - 24 Feb 2023
Viewed by 1271
Abstract
The pathobiological role of estrogen is controversial in colorectal cancer. Cytosine-adenine (CA) repeat in the estrogen receptor (ER)-β gene (ESR2-CA) is a microsatellite, as well as representative of ESR2 polymorphism. Though its function is unknown, we previously showed that a shorter [...] Read more.
The pathobiological role of estrogen is controversial in colorectal cancer. Cytosine-adenine (CA) repeat in the estrogen receptor (ER)-β gene (ESR2-CA) is a microsatellite, as well as representative of ESR2 polymorphism. Though its function is unknown, we previously showed that a shorter allele (germline) increased the risk of colon cancer in older women, whereas it decreased it in younger postmenopausal women. ESR2-CA and ER-β expressions were examined in cancerous (Ca) and non-cancerous (NonCa) tissue pairs from 114 postmenopausal women, and comparisons were made considering tissue types, age/locus, and the mismatch repair protein (MMR) status. ESR2-CA repeats <22/≥22 were designated as ‘S’/‘L’, respectively, resulting in genotypes SS/nSS (=SL&LL). In NonCa, the rate of the SS genotype and ER-β expression level were significantly higher in right-sided cases of women ≥70 (≥70Rt) than in those in the others. A decreased ER-β expression in Ca compared with NonCa was observed in proficient-MMR, but not in deficient-MMR. In NonCa, but not in Ca, ER-β expression was significantly higher in SS than in nSS. ≥70Rt cases were characterized by NonCa with a high rate of SS genotype or high ER-β expression. The germline ESR2-CA genotype and resulting ER-β expression were considered to affect the clinical characteristics (age/locus/MMR status) of colon cancer, supporting our previous findings. Full article
(This article belongs to the Special Issue Estrogen Receptors and Metabolism in Human Diseases)
►▼ Show Figures

Figure 1

Review

Jump to: Research

11 pages, 278 KiB  
Review
The Role of Hormonal Replacement Therapy in BRCA Mutated Patients: Lights and Shadows
by Vera Loizzi, Miriam Dellino, Marco Cerbone, Francesca Arezzo, Gerardo Cazzato, Gianluca Raffaello Damiani, Vincenzo Pinto, Erica Silvestris, Anila Kardhashi, Ettore Cicinelli, Eliano Cascardi and Gennaro Cormio
Int. J. Mol. Sci. 2023, 24(1), 764; https://doi.org/10.3390/ijms24010764 - 01 Jan 2023
Cited by 8 | Viewed by 4531
Abstract
All cancers develop as a result of mutations in genes. DNA damage induces genomic instability and subsequently increases susceptibility to tumorigenesis. Women who carry mutations of BRCA 1 and BRCA2 genes have an augmented risk of breast and ovarian cancer and a markedly [...] Read more.
All cancers develop as a result of mutations in genes. DNA damage induces genomic instability and subsequently increases susceptibility to tumorigenesis. Women who carry mutations of BRCA 1 and BRCA2 genes have an augmented risk of breast and ovarian cancer and a markedly augmented probability of dying because of cancer compared to the general population. As a result, international guidelines recommend that all BRCA1\2 mutation carriers be offered risk-reducing bilateral salpingo-oophorectomy at an early age to reduce the risk of cancer and decrease the mortality rate of this high-risk population. NCCN guidelines recommend risk-reducing bilateral salpingo-oophorectomy in pre-menopausal women, between 35–40 years in BRCA1 mutation carriers and between 40–45 years in BRCA2 mutation carriers. Unfortunately, the well-documented reduction of cancer risk is counterbalanced by early sterility and premature ovarian failure with an early onset of secondary menopausal syndromes such as neuromotor, cardiovascular, cognitive and urogenital deficiency. Hormonal replacement therapy significantly compensates for hormonal deprivation and counteracts menopausal syndrome morbidity and mortality; however, some data suggest a possible correlation between hormonal medications and cancer risk, especially in BRCA1\2 carriers who undergo long-term regimens. Conversely, short-term treatment before the age of natural menopause does not appear to increase the cancer risk in BRCA1 mutation carriers without a personal history of breast cancer after prophylactic surgery. Few data are available on BRCA2 mutation carriers and more well-designed studies are needed. In conclusion, clinicians should propose short-term hormone replacement therapy to BRCA 1 carriers to counteract hormonal deprivation; personalized counselling should be offered to BRCA2 mutation carriers for a balance between the risks and benefits of the treatment. Full article
(This article belongs to the Special Issue Estrogen Receptors and Metabolism in Human Diseases)
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-3
Back to TopTop